Variant report

Variant	rs950590
Chromosome Location	chr4:186654377-186654378
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186654347..186656337-chr4:186660900..186663471,2	K562	blood:

Variant related genes	Relation type
ENSG00000154556	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10011292	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[ASN][1000 genomes]
rs10017672	0.87[CEU][hapmap]
rs10017940	0.87[CEU][hapmap]
rs10018379	0.81[ASN][1000 genomes]
rs11132338	0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs1540711	0.82[ASN][1000 genomes]
rs2030144	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs2047499	0.85[CEU][hapmap]
rs4376189	0.82[JPT][hapmap]
rs4407549	0.82[JPT][hapmap]
rs4640708	0.82[JPT][hapmap]
rs4862561	0.82[JPT][hapmap]
rs4862565	0.87[CEU][hapmap]
rs4862566	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6836237	0.87[CEU][hapmap]
rs6837079	0.87[CEU][hapmap]
rs7340885	1.00[JPT][hapmap]
rs7688359	1.00[JPT][hapmap]
rs7694063	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186642800-186657800	Weak transcription	Gastric	stomach
2	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
3	chr4:186648400-186658800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:186649200-186659000	Weak transcription	Fetal Kidney	kidney
5	chr4:186650800-186658600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:186651000-186660000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:186652000-186654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:186652000-186654600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:186652000-186654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:186652000-186654800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:186652000-186655600	Weak transcription	Spleen	Spleen
12	chr4:186652000-186657800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:186652000-186658000	Weak transcription	Esophagus	oesophagus
14	chr4:186652000-186658800	Weak transcription	Lung	lung
15	chr4:186652000-186659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:186652200-186655200	Weak transcription	HUVEC	blood vessel
17	chr4:186652200-186655600	Weak transcription	Placenta	Placenta
18	chr4:186652200-186655800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:186652200-186657400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:186652200-186657800	Weak transcription	Ovary	ovary
21	chr4:186652200-186658400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:186652200-186658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:186652200-186659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:186652200-186659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:186652400-186654400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:186652400-186655000	Enhancers	GM12878-XiMat	blood
27	chr4:186652400-186655400	Weak transcription	Osteobl	bone
28	chr4:186652400-186655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:186652400-186655800	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:186652400-186656000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:186652400-186657600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:186652400-186657800	Weak transcription	Stomach Mucosa	stomach
33	chr4:186652400-186658000	Weak transcription	HSMM	muscle
34	chr4:186652400-186658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:186652400-186658600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:186652400-186658600	Weak transcription	NH-A	brain
37	chr4:186652400-186660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:186652600-186654400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:186652600-186655400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:186652600-186658200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:186652600-186658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:186652600-186661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:186652800-186656200	Weak transcription	Fetal Brain Male	brain
44	chr4:186652800-186657800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:186653000-186657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:186653200-186654400	Genic enhancers	Liver	Liver
47	chr4:186653400-186654800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:186653400-186655200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:186653400-186655200	Strong transcription	HSMMtube	muscle
50	chr4:186653400-186656200	Weak transcription	Fetal Lung	lung

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